NIPAL4 gene
NIPA like domain containing 4
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
From UniProt:
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.
Related Information
Covered on Genetics Home Reference:
From NCBI Gene:
- Autosomal recessive congenital ichthyosis 6
From UniProt:
Ichthyosis, congenital, autosomal recessive 6 (ARCI6): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [MIM:612281]
Related Information
Cytogenetic Location: 5q33.3, which is the long (q) arm of chromosome 5 at position 33.3
Molecular Location: base pairs 157,460,019 to 157,474,722 on chromosome 5 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Related Information
- ARCI6
- ICHTHYIN
- ICHYN